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rs193922204

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922204(A;A)
Make rs193922204(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48468542
GeneFBN1
is asnp
is mentioned by
dbSNPrs193922204
ebirs193922204
HLIrs193922204
Exacrs193922204
Varsomers193922204
Maprs193922204
PheGenIrs193922204
hapmaprs193922204
1000 genomesrs193922204
hgdprs193922204
ensemblrs193922204
gopubmedrs193922204
geneviewrs193922204
scholarrs193922204
googlers193922204
pharmgkbrs193922204
gwascentralrs193922204
openSNPrs193922204
23andMers193922204
23andMe allrs193922204
SNP Nexus

SNPshotrs193922204
SNPdbers193922204
MSV3drs193922204
GWAS Ctlgrs193922204
Max Magnitude0
ClinVar
Risk rs193922204(A;A)
Alt rs193922204(A;A)
Reference rs193922204(G;G)
Significance Other
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48760739C>T
CLNSRC ClinVar
CLNACC RCV000029737.1,


[PMID 11700157] Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.


[PMID 15241795] Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.